Variant report

Variant	rs555779651
Chromosome Location	chr1:226375357-226375358
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:226372734-226375432	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
4	chr1:226374796..226376428-chr1:226594450..226597292,2	K562	blood:
5	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
6	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
7	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000225518	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000223570	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
3	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
2	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:226373400-226375400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:226373400-226375400	Active TSS	Hela-S3	cervix
5	chr1:226373600-226375400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:226373600-226375400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226374600-226375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:226374800-226375400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:226374800-226375400	Flanking Active TSS	Fetal Lung	lung
12	chr1:226374800-226375400	Flanking Active TSS	Dnd41	blood
13	chr1:226375000-226375400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:226375000-226375400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:226375000-226375400	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226375000-226375600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:226375000-226380000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:226375000-226382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:226375200-226375400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:226375200-226375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:226375200-226375400	Enhancers	Primary B cells from cord blood	blood
22	chr1:226375200-226375400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:226375200-226375400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:226375200-226375400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:226375200-226375400	Enhancers	Adipose Nuclei	Adipose
26	chr1:226375200-226375400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:226375200-226375400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:226375200-226375400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr1:226375200-226375400	Enhancers	HepG2	liver
30	chr1:226375200-226377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:226375200-226377200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:226375200-226378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:226375200-226411000	Weak transcription	Right Atrium	heart

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